S. Morlot

发表

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes

K. Kutsche, E. Schwinger, G. Gillessen‐kaesbach, 2002, Human mutation.

Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A

D. Steinemann, M. Golas, B. Schlegelberger, 2019, American journal of medical genetics. Part A.

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.

M. Ahmadian, B. Dallapiccola, M. Tartaglia, 2010, Human molecular genetics.

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation

D. Cooper, H. Kehrer-Sawatzki, L. Kluwe, 2011, Human mutation.

12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.

D. Steinemann, T. Illig, T. Eggermann, 2018, European journal of medical genetics.

OnkoRiskNET: a multicenter, interdisciplinary, telemedicine-based model to improve care for patients with a genetic tumor risk syndrome

E. Schröck, E. Baumann, A. Bergmann, 2022, BMC Health Services Research.

Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer

R. Schmutzler, M. Kiechle, N. Ditsch, 2021, Breast Care.

A tandem duplication of BRCA1 exons 1–19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome

D. Steinemann, T. Illig, H. Cao, 2018, Breast Cancer Research and Treatment.

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

T. Meitinger, T. Strom, H. Prokisch, 2018, American journal of human genetics.

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS

E. Seemanová, S. Morlot, O. Bartsch, 2005, Human Genetics.

Premature Ovarian Failure Caused by a Heterozygous Missense Mutation in POF1B and a Reciprocal Translocation 46,X,t(X;3)(q21.1;q21.3)

T. Liehr, P. Wieacker, S. Preisler‐Adams, 2015, Sexual Development.

Human Ring Chromosomes – New Insights for their Clinical Significance

S. Bhatt, A. Dufke, T. Liehr, 2013, Balkan journal of medical genetics : BJMG.

Five Novel Locations of Neocentromeres in Human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and Heterochromatin of Unknown Origin

M. Rocchi, T. Liehr, M. Volleth, 2012, Cytogenetic and Genome Research.

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

S. Mundlos, H. Brunner, C. Ott, 2010, Human mutation.

From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high‐throughput sequencing

D. Steinemann, W. Hofmann, B. Schlegelberger, 2019, Molecular genetics & genomic medicine.

Fanconi’s Anemia and Clinical Radiosensitivity

T. Dörk, M. Bremer, J. Karstens, 2003, Strahlentherapie und Onkologie (Print).

Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes.

H. Ostrer, D. Goldstein, X. Estivill, 1998, American journal of human genetics.

Dating the Origin of the CCR 5D 32 AIDS-Resistance Allele by the Coalescence of Haplotypes

H. Ostrer, D. Goldstein, X. Estivill, 2007 .

Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.

P. Wieacker, O. Hiort, G. Scherer, 2010, Human reproduction.

Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes.

A. Röpke, P. Wieacker, M. Volleth, 2004, American journal of obstetrics and gynecology.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

H. Mandel, M. Hochuli, J. Jordan, 2014, Orphanet Journal of Rare Diseases.

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

S. Mundlos, B. Kerr, S. Kjaergaard, 2007, American journal of human genetics.

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

Christie M. Buchovecky, B. Honig, D. Petrey, 2020, Human Genetics.

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

K. Steel, M. Ptok, U. Zimmermann, 2015, Orphanet Journal of Rare Diseases.

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin

P. Robinson, D. Mitter, K. Sperling, 2012, Molecular Syndromology.

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Stefan Mundlos, Denise Horn, Dirk Schnabel, 2006, Journal of Medical Genetics.

Molecular and clinical studies in 8 patients with Temple syndrome

D. Mitter, T. Eggermann, B. Albrecht, 2018, Clinical genetics.

De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia

D. Steinemann, W. Hofmann, B. Schlegelberger, 2020, Clinical genetics.

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

V. Maloney, J. Barber, T. Liehr, 2010, Molecular Cytogenetics.

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations

J. Mulliken, M. Vikkula, A. Utkus, 2006, Clinical genetics.

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.

B. Bohnhorst, J. Schmidtke, J. Epplen, 2010, European journal of medical genetics.

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management

W. Jonat, C. Fischer, L. Harder, 2012, Breast Cancer Research and Treatment.

A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin

V. Trifonov, T. Liehr, M. Petersen, 2012, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1

H. Bassan, Philippe M. Campeau, G. Zanni, 2021, Neurology: Genetics.

10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

S. Cheung, W. Cai, S. Bhatt, 2009, Cytogenetic and Genome Research.

Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.

J. Prud'homme, D. Hohl, C. Munro, 2003, The Journal of investigative dermatology.

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.

M. Ahmadian, B. Dallapiccola, M. Tartaglia, 2010, Human molecular genetics.